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Tuberculosis, more commonly referred to as TB, is an infectious disease stemming from Mycobacterium tuberculosis. While it primarily impacts the lungs, TB can also affect other body areas. Given its severity and global impact, timely and accurate diagnosis is crucial for controlling its spread and improving patient outcomes.
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Intradermal Inoculation of Mycobacterium avium in the Mouse Ear
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Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite

Bernhard Kratzer1, Katharina Grabmeier-Pfistershammer1, Doris Trapin1

  • 1Medical University of Vienna, Center for Pathophysiology, Infectiology and Immunology, Institute of Immunology, Vienna, Austria.

International Archives of Allergy and Immunology
|June 6, 2023
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Summary

Rare cervical scrofulous lymphadenitis in immunocompetent adults can stem from immune deficiencies. Detailed immunological evaluation is crucial for diagnosis, even with genetic testing, to uncover causes of immunodeficiency.

Keywords:
Cytokine productionFunctional T cell analysisImmunodeficiencyInterferon gamma receptorMycobacterium avium complex infections

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Area of Science:

  • Immunology
  • Infectious Diseases
  • Genetics

Background:

  • Cervical scrofulous lymphadenitis caused by Mycobacterium avium complex (MAC) is rare in immunocompetent adults.
  • MAC infections necessitate thorough clinical and immunological assessment, including next-generation sequencing (NGS).

Purpose of the Study:

  • To investigate the underlying immunological and genetic causes of cervical scrofulous lymphadenitis in two immunocompetent adult patients.
  • To correlate clinical presentation with detailed immune function and genetic findings.

Main Methods:

  • Phenotypic and functional immunological evaluation of leukocyte populations.
  • Targeted NGS-based sequencing of candidate genes.
  • Multiparametric flow cytometry for cytokine production analysis.

Main Results:

  • Patients exhibited lymphopenia with reduced memory T-cell and B-cell numbers.
  • Reduced production of key cytokines (IFN-γ, IL-10, IL-12p70, IL-1α, IL-1β, TNF-α) was observed.
  • One patient had a homozygous IFNGR1 mutation; the other showed reduced IFNGR1 expression on T cells without detectable mutations, indicating complex immune dysfunction.

Conclusions:

  • Phenotypic and functional immunological assessment is essential for diagnosing clinically relevant immunodeficiencies.
  • Genetic analyses alone may not fully explain the immune defects in such rare cases.